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Mevalonate kinase deficiency and IBD: shared genetic background
  1. Anna Monica Bianco1,
  2. Martina Girardelli1,
  3. Diego Vozzi1,
  4. Sergio Crovella1,2,
  5. Giulio Kleiner1,
  6. Annalisa Marcuzzi1
  1. 1 Health Genetics Unit, Institute for Maternal and Child Health—IRCCS “Burlo Garofolo”, Trieste, Italy
  2. 2 Medicine, Surgery and Health Sciences Department, University of Trieste, Trieste, Italy
  1. Correspondence to Dr Annalisa Marcuzzi, Health Genetics Unit, Institute for Maternal and Child Health—IRCCS “Burlo Garofolo”, Via dell'Istria, Trieste 65/1-34137, Italy; annalisa.marcuzzi{at}

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Dear editor,

We read with interest the article entitled ‘Monogenic diseases associated with intestinal inflammation: implications for the understanding of inflammatory bowel disease’ written by Uhlig1 and published by Gut. The study, describing the very early onset of intestinal inflammation in several orphan monogenic diseases, aimed at determining the presence of a link between the IBD-like phenotype shown by these rare diseases and the intestinal inflammation seen in typical IBD. The IBD aetiology is multifactorial: at present, genome-wide association studies have identified 163 susceptibility loci associated with an increased risk of developing IBD.2 Beside these identified genetic loci that provide little contribution to explain IBD hereditability, the number of monogenic diseases presenting IBD-like symptoms is however continuously increasing. These monogenic diseases usually exhibit very early onset and very severe symptoms; in addition, they are often unresponsive to common drugs (anti-inflammatory and immunosuppressive treatments, such as anti-TNFα).

In his article,1 Uhlig reports that …

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